强直性椎体肥大伴胼胝形成

定义 英文原文（暂无中文）

A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.

基本事实

遗传方式

常染色体显性

发病年龄

成年期

患病率

<1 / 1 000 000

临床表型 5

外部标识与链接